Paula and Bobby
Parents of Lillie
Hajdu-Cheney syndrome (HJCYS)
What is Hajdu-Cheney syndrome (HJCYS)?
This rare disease is a congenital syndrome that presents with a variety of symptoms depending on the individual affected.
The main symptoms of the syndrome affect the skull and bones of the fingers and toes. In some individuals the neurological system may also be affected.
There is still much to be known about this rare condition in terms of its syndromes and diagnosis.
What gene changes cause Hajdu-Cheney syndrome (HJCYS)?
Changes to the NOTCH2 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern but many diagnosed cases are de novo.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Hajdu-Cheney syndrome (HJCYS)?
Symptoms of the syndrome may vary widely between individuals. Some of the more common symptoms include a breakdown of the outermost bones of the fingers and toes.
Skull abnormalities, joint laxity (joints are too loose), osteoporosis and a short stature may be symptoms of the syndrome too.
In some cases the syndrome may affect the neurological system, the heart, and the kidneys and urinary tract.
How does someone get tested for Hajdu-Cheney syndrome (HJCYS)?
The initial testing for Hajdu-Cheney syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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